ClinVar Miner

List of variants studied for Tuberous sclerosis 1 by Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000368.5(TSC1):c.2075G>A (p.Arg692Gln) rs199755731 0.00011
NM_000368.5(TSC1):c.2696C>G (p.Thr899Ser) rs76801599 0.00005
NM_000368.5(TSC1):c.-214C>T rs886063628 0.00002
NC_000009.12:g.132691768_133013020del
NM_000368.5(TSC1):c.-144+134G>T rs375418118
NM_000368.5(TSC1):c.1250del (p.Thr417fs) rs397514778
NM_000368.5(TSC1):c.1486_1504del (p.Pro496fs) rs1845654716
NM_000368.5(TSC1):c.1498C>T (p.Arg500Ter) rs118203537
NM_000368.5(TSC1):c.1525C>T (p.Arg509Ter) rs118203542
NM_000368.5(TSC1):c.1527del (p.Asp510fs) rs1845652716
NM_000368.5(TSC1):c.1614del (p.Ser539fs) rs1845643067
NM_000368.5(TSC1):c.1628T>C (p.Leu543Pro) rs1588310271
NM_000368.5(TSC1):c.1759A>T (p.Lys587Ter) rs397514846
NM_000368.5(TSC1):c.1812T>G (p.Tyr604Ter) rs2131821679
NM_000368.5(TSC1):c.1888_1891del (p.Lys630fs)
NM_000368.5(TSC1):c.1904_1905del (p.Thr635fs) rs118203597
NM_000368.5(TSC1):c.1960C>T (p.Gln654Ter) rs75820036
NM_000368.5(TSC1):c.1996A>T (p.Lys666Ter) rs1845604585
NM_000368.5(TSC1):c.2041+1G>A rs397514842
NM_000368.5(TSC1):c.2041+240_2392-319del
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter) rs118203631
NM_000368.5(TSC1):c.2101C>T (p.Gln701Ter) rs1845504382
NM_000368.5(TSC1):c.2112T>A (p.Tyr704Ter) rs118203646
NM_000368.5(TSC1):c.2209-258_2502+101del
NM_000368.5(TSC1):c.2227C>T (p.Gln743Ter) rs118203661
NM_000368.5(TSC1):c.2242C>T (p.Gln748Ter) rs1588301951
NM_000368.5(TSC1):c.2283C>A (p.Tyr761Ter) rs118203668
NM_000368.5(TSC1):c.2342_2343insAA (p.Leu782fs) rs397514855
NM_000368.5(TSC1):c.2347C>T (p.Gln783Ter) rs118203681
NM_000368.5(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs) rs118203707
NM_000368.5(TSC1):c.2559_2560insAA (p.Val854fs) rs2131687178
NM_000368.5(TSC1):c.2582del (p.Leu861fs) rs397514865
NM_000368.5(TSC1):c.2626-1G>A rs397514847
NM_000368.5(TSC1):c.2671_2674del (p.Asn891fs) rs1845149321
NM_000368.5(TSC1):c.2672dup (p.Asn891fs) rs118203724
NM_000368.5(TSC1):c.2806C>T (p.Gln936Ter) rs118203735
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000368.5(TSC1):c.363+1G>T rs118203372
NM_000368.5(TSC1):c.363+668G>T rs2132219029
NM_000368.5(TSC1):c.364-2A>G rs1846685279
NM_000368.5(TSC1):c.43G>A (p.Asp15Asn) rs1554821020
NM_000368.5(TSC1):c.542A>C (p.His181Pro) rs397515294
NM_000368.5(TSC1):c.572T>G (p.Leu191Arg) rs118203403
NM_000368.5(TSC1):c.585C>G (p.Tyr195Ter) rs118203407
NM_000368.5(TSC1):c.634_635del (p.Asn212fs) rs1846577619
NM_000368.5(TSC1):c.647_648del (p.Thr215_Phe216insTer) rs118203417
NM_000368.5(TSC1):c.648del (p.Phe216fs) rs118203417
NM_000368.5(TSC1):c.664-15A>G rs118203422
NM_000368.5(TSC1):c.664-2A>G rs1846550204
NM_000368.5(TSC1):c.682C>T (p.Arg228Ter) rs118203427
NM_000368.5(TSC1):c.733C>T (p.Arg245Ter) rs118203434
NM_000368.5(TSC1):c.866C>G (p.Ser289Ter) rs397514867
NM_000368.5(TSC1):c.982C>T (p.Gln328Ter) rs1554817388
NM_000368.5(TSC1):c.989del (p.Leu330fs) rs397514870

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